Variant report

Variant	rs16914376
Chromosome Location	chr8:51085681-51085682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1000638	0.87[ASN][1000 genomes]
rs1000639	0.87[ASN][1000 genomes]
rs10096871	0.90[ASN][1000 genomes]
rs10098057	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504094	0.87[ASN][1000 genomes]
rs10504096	0.91[ASN][1000 genomes]
rs10504098	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504099	0.83[EUR][1000 genomes]
rs10957813	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957853	0.82[EUR][1000 genomes]
rs11775978	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778998	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11780070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781981	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786703	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11989367	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11991940	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056425	0.83[EUR][1000 genomes]
rs12056426	0.83[EUR][1000 genomes]
rs12542067	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12545263	0.91[ASN][1000 genomes]
rs12545365	0.82[EUR][1000 genomes]
rs12545915	0.82[EUR][1000 genomes]
rs12677522	0.82[EUR][1000 genomes]
rs12677964	0.81[EUR][1000 genomes]
rs12679317	0.82[EUR][1000 genomes]
rs12679356	0.82[EUR][1000 genomes]
rs13271983	0.90[ASN][1000 genomes]
rs13277538	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450127	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs149992	0.85[ASN][1000 genomes]
rs1597428	0.81[EUR][1000 genomes]
rs1597429	0.82[EUR][1000 genomes]
rs1597430	0.82[EUR][1000 genomes]
rs1597431	0.82[EUR][1000 genomes]
rs16914459	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17758599	0.90[ASN][1000 genomes]
rs1901050	0.82[EUR][1000 genomes]
rs1903311	0.91[ASN][1000 genomes]
rs203612	0.96[ASN][1000 genomes]
rs203616	0.96[ASN][1000 genomes]
rs203621	0.92[ASN][1000 genomes]
rs203623	0.91[ASN][1000 genomes]
rs203624	0.95[ASN][1000 genomes]
rs203626	0.91[ASN][1000 genomes]
rs203632	0.94[ASN][1000 genomes]
rs203908	0.94[ASN][1000 genomes]
rs203928	0.92[ASN][1000 genomes]
rs203932	0.91[ASN][1000 genomes]
rs203933	0.91[ASN][1000 genomes]
rs203935	0.93[ASN][1000 genomes]
rs203936	0.91[ASN][1000 genomes]
rs203937	0.93[ASN][1000 genomes]
rs203938	0.93[ASN][1000 genomes]
rs203939	0.91[ASN][1000 genomes]
rs203940	0.93[ASN][1000 genomes]
rs203947	0.90[ASN][1000 genomes]
rs203949	0.87[ASN][1000 genomes]
rs203960	0.91[ASN][1000 genomes]
rs2084589	0.80[EUR][1000 genomes]
rs2084590	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084591	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34047312	0.91[ASN][1000 genomes]
rs34217744	0.83[AMR][1000 genomes]
rs34641787	0.91[ASN][1000 genomes]
rs34722367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34788367	0.85[EUR][1000 genomes]
rs34908431	0.85[EUR][1000 genomes]
rs34997857	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35516514	0.82[AMR][1000 genomes]
rs35857674	0.82[AMR][1000 genomes]
rs35989044	0.87[ASN][1000 genomes]
rs36006902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420489	0.96[ASN][1000 genomes]
rs4448283	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4448284	0.83[EUR][1000 genomes]
rs4873126	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873127	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873129	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873131	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873132	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873133	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873134	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873135	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873141	0.80[AMR][1000 genomes]
rs4873405	0.88[ASN][1000 genomes]
rs4873406	0.91[ASN][1000 genomes]
rs4873407	0.91[ASN][1000 genomes]
rs4873408	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873412	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873414	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873415	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873417	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873418	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873419	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873420	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873421	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873426	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873427	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873428	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873438	0.83[AMR][1000 genomes]
rs4873439	0.84[AMR][1000 genomes]
rs56007637	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56725	0.96[ASN][1000 genomes]
rs62515375	0.91[ASN][1000 genomes]
rs62516672	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62516685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62516687	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472947	0.91[ASN][1000 genomes]
rs6983498	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986896	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988843	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6991753	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996646	0.90[ASN][1000 genomes]
rs7001686	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7002235	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013995	0.88[ASN][1000 genomes]
rs7016161	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018082	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs721441	0.90[ASN][1000 genomes]
rs7386487	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464491	0.83[EUR][1000 genomes]
rs7817040	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817638	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7820951	0.90[ASN][1000 genomes]
rs7824938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825063	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7835849	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs870754	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs884561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898520	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1027984	chr8:51060895-51098808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022362	chr8:51071742-51093985	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv8340	chr8:51085564-51087130	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51082600-51086400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51084600-51086000	Enhancers	NH-A	brain
3	chr8:51085200-51086000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51085200-51086000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:51085600-51091200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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